Varaico: Literature-Extracted Genetic Variants

VLDLR

201 papers

RefSeq Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that i...

Pfam Domains

Ldl_recept_aaa 31–67UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 70–108UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 111–147UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 111–149UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 150–188UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 196–232UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

very low density lipoprotein receptor

HGNC Alias Symbols

CARMQ1; CHRMQ1; VLDLRCH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003383.5

p.N148I

c.443A>T

Surrounding Variants

1 paper

NM_003383.5

p.D145A

c.434A>C

1 paper

NM_003383.5

p.E144K

c.430G>A

1 paper

NM_003383.5

p.D139H

c.415G>C

1 paper

NM_003383.5

p.E137D

c.411A>C

1 paper

NM_003383.5

p.E137D

c.411A>T

1 paper

NM_003383.5

p.G136V

c.407G>T

1 paper

NM_003383.5

p.D135A

c.404A>C

1 paper

NM_003383.5

p.W132G

c.394T>G

1 paper

NM_003383.5

p.S131S

c.393C>A

1 paper

NM_003383.5

p.Q126*

c.376C>T

1 paper

NM_003383.5

p.H123Q

c.369T>A

1 paper

NM_003383.5

p.H123Q

c.369T>G